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News and Features
Wanding Zhou edited this page Feb 2, 2016
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- supports HGVS nomenclature
- supports input from gene name, transcript ID, protein ID, UniProt ID and other aliases.
- supports both left-alignment and right-alignment convention in reporting indels and duplications.
- supports annotation of a region based on a transcript-dependent characterization
- supports mutations at both coding region and intronic/UTR regions
- supports noncoding RNA annotation
- supports VCF inputs
- supports long haplotype decomposition
- supports single nucleotide variation (SNV), insertions and deletions (indels) and block substitutions
- supports transcript annotation from commonly-used databases such as Ensembl, NCBI RefSeq and GENCODE etc
- supports GRCh36, 37, 38 (human), GRCm38 (mouse), NCBIM37 (mouse)
- supports >60 other genomes available from Ensembl
- functionality of forward annotation.